All transcript variants in gene LCT

Information The variants shown are described using the NM_002299.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 14 c.4998_5001del - r.(4998_5001del) p.(Ser1666Argfs*56) g.136552321_136552324del g.135794751_135794754del c.4998_5001delTGAG: S1666fsX1722 - LCT_000010 2 Finnish families (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - - SUMMARY record yes 0/556 FIN CON - - - Anne Polvi
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